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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HUWE1
(R3070C)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
HUWE1, LOC126863263
(A1238T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HUWE1
(R110W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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